Hereditary gelsolin amyloidosis

disorder

SNOMED 783160006CUI C0936273

Overview

Hereditary gelsolin amyloidosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bilateral ptosis

Very frequent (80-99%)HP:0001488

Dermatological manifestations of systemic disorders

Very frequent (80-99%)HP:0001005

Dry eye syndrome

Very frequent (80-99%)HP:0001097

Eye disease

Very frequent (80-99%)HP:0000478

Lattice corneal dystrophy

Very frequent (80-99%)HP:0001149

Xerosis

Very frequent (80-99%)HP:0000958

Abnormal heart rate

Frequent (30-79%)HP:0011675

Ataxia

Frequent (30-79%)HP:0001251

Brain and/or spinal cord issue

Frequent (30-79%)HP:0000707

Bruising susceptibility

Frequent (30-79%)HP:0000978

Cataract

Frequent (30-79%)HP:0000518

Constrictive median neuropathy

Frequent (30-79%)HP:0012185

Corneal ulcerations

Frequent (30-79%)HP:0012804

Deafness

Frequent (30-79%)HP:0000365

Decreased visual acuity

Frequent (30-79%)HP:0007663

Deglutition disorder

Frequent (30-79%)HP:0002015

Distal peripheral sensory neuropathy

Frequent (30-79%)HP:0007067

Facial muscle weakness of muscles innervated by CN VII

Frequent (30-79%)HP:0010628

Generalized elastolysis

Frequent (30-79%)HP:0000973

Myokymia

Frequent (30-79%)HP:0002411

Polyneuropathy

Frequent (30-79%)HP:0001271

Poor vision

Frequent (30-79%)HP:0000505

Regional abnormality of skin

Frequent (30-79%)HP:0011356

Soft tissue swelling

Frequent (30-79%)HP:0000969

Xerostomia

Frequent (30-79%)HP:0000217

Abnormal spleen morphology

Occasional (5-29%)HP:0025408

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Diffuse skin atrophy

Occasional (5-29%)HP:0007488

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Extraocular muscle palsy

Occasional (5-29%)HP:0000597

Related Conditions

Hereditary corneal dystrophy(parent)

Autosomal dominant hereditary disorder(parent)

Ocular amyloid deposit(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of nervous system(parent)

Hereditary amyloidosis(parent)

Systemic amyloidosis affecting skin(parent)

Quick Facts

SNOMED CT: 783160006
UMLS CUI: C0936273
Fully Specified Name: Hereditary gelsolin amyloidosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.